MEGF10-Related Myopathy
From BugSigDB
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NA
- Aliases
- A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
- early-onset myopathy, areflexia, respiratory distress and dysphagia
- early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- EMARDD
- MEGF10 Myopathy
- myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
